Gene

ap1s1

ID
ZDB-GENE-040426-1119
Name
adaptor related protein complex 1 subunit sigma 1
Symbol
ap1s1 Nomenclature History
Previous Names
  • zgc:56704
  • zgc:85689
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Involved in extracellular matrix organization and nervous system development. Localizes to perinuclear region of cytoplasm and plasma membrane. Human ortholog(s) of this gene implicated in MEDNIK syndrome. Is expressed in several structures, including hatching gland; nervous system; polster; pronephric duct; and solid lens vesicle. Orthologous to human AP1S1 (adaptor related protein complex 1 subunit sigma 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from Montpetit et al., 2008
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ap1s1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
MEDNIK syndrome Alliance MEDNIK syndrome 609313
Associated With ap1s1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR000804 Clathrin adaptor complex, small chain
Domain IPR022775 AP complex, mu/sigma subunit
Family IPR016635 Adaptor protein complex, sigma subunit
Family IPR044733 AP-1 complex subunit sigma
Homologous_superfamily IPR011012 Longin-like domain superfamily
Domain Details Per Protein
Protein Length Adaptor protein complex, sigma subunit AP-1 complex subunit sigma AP complex, mu/sigma subunit Clathrin adaptor complex, small chain Longin-like domain superfamily
UniProtKB:F1Q5Z2 157
UniProtKB:A0A2R8Q9P3 107
UniProtKB:Q6NSP1 158
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations